rs200330818

Orientation

minus

Stabilized

plus

Geno	Mag	Summary
(A;C)	4.4	Hereditary hemorrhagic telangiectasia, type 5
(C;C)	0	common in clinvar

Make rs200330818(A;A)

Reference

GRCh38 38.1/142

Chromosome

10

Position

47322871

Gene

GDF2

is a	snp
is	mentioned by
dbSNP	rs200330818
dbSNP (classic)	rs200330818
ClinGen	rs200330818
ebi	rs200330818
HLI	rs200330818
Exac	rs200330818
Gnomad	rs200330818
Varsome	rs200330818
LitVar	rs200330818
Map	rs200330818
PheGenI	rs200330818
Biobank	rs200330818
1000 genomes	rs200330818
hgdp	rs200330818
ensembl	rs200330818
geneview	rs200330818
scholar	rs200330818
google	rs200330818
pharmgkb	rs200330818
gwascentral	rs200330818
openSNP	rs200330818
23andMe	rs200330818
SNPshot	rs200330818
SNPdbe	rs200330818
MSV3d	rs200330818
GWAS Ctlg	rs200330818

Max Magnitude

4.4

c.203G>T (p.Arg68Leu)

ClinVar
Risk	rs200330818(A;A) rs200330818(T;T)
Alt	rs200330818(A;A) rs200330818(T;T)
Reference	Rs200330818(C;C)
Significance	Pathogenic
Disease	Telangiectasia
Variation	info
Gene	GDF2
CLNDBN	Telangiectasia, hereditary hemorrhagic, type 5
Reversed	0
HGVS	NC_000010.10:g.48416491C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074345.2,